title: Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.
abstract: Human chromosome 21 has been analyzed by pulsed-field gel electrophoresis using somatic cell hybrids containing limited regions of the chromosome and greater than 60 unique sequence probes. Thirty-three independent NotI fragments have been identified, totalling 43 million bp. This must account for essentially the entire long arm, and therefore gaps remaining in the map must be small. The extent of the pulsed-field map has allowed the direct correlation of the physical map with the cytogenetic map: translocation breakpoints can be unambiguously positioned along the long arm and the distances between them measured in base pairs. Three breakpoints have been identified, providing physical confirmation of cytogenetic landmarks. Information on sequence organization has been obtained: (i) 60% of the unique sequence probes are located within 11 physical linkage groups which can be contained in only 20% of the long arm; (ii) 9/21 genes are clustered within 4%; (iii) translocation breakpoints appear to occur within CpG island regions, making their identification difficult by pulsed-field techniques. This analysis contributes to the human genome mapping effort, and provides information to guide the rapid investigation of the biology of chromosome 21.
authors.affiliation: Eleanor Roosevelt Institute for Cancer Research, Denver, CO.
authors.forename: K
authors.initials: K
authors.lastname: Gardiner
authors.forename: M
authors.initials: M
authors.lastname: Horisberger
authors.forename: J
authors.initials: J
authors.lastname: Kraus
authors.forename: U
authors.initials: U
authors.lastname: Tantravahi
authors.forename: J
authors.initials: J
authors.lastname: Korenberg
authors.forename: V
authors.initials: V
authors.lastname: Rao
authors.forename: S
authors.initials: S
authors.lastname: Reddy
authors.forename: D
authors.initials: D
authors.lastname: Patterson
mesh_terms: D001482:Base Composition; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D015342:DNA Probes; D004586:Electrophoresis; D006801:Humans; D006822:Hybrid Cells; D008745:Methylation; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes